What is Cystic Fibrosis?

Cystic fibrosis is a life-threatening genetic disease that causes mucus to build up and clog some of the organs in the body, particularly the lungs and pancreas. When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria (or germs) to get stuck in the airways, which causes inflammation (or swelling) and infections that lead to lung damage.

Mucus also can block the digestive tract and pancreas. The mucus stops digestive enzymes from getting to the intestines. The body needs these enzymes to break down food, which provides important nutrients to help people grow and stay healthy. People with cystic fibrosis often need to replace these enzymes with medicine they take with their meals and snacks, which helps them digest food and get proper nutrition. 

  

Symptoms of Cystic Fibrosis

The severity of cystic fibrosis symptoms is different from person to person. The most common symptoms are:

• Very salty-tasting skin
  
• Persistent coughing at times producing phlegm
• Frequent lung infections, like pneumonia or bronchitis
• Wheezing or shortness of breath
• Poor growth/weight gain in spite of a good appetite
• Frequent greasy, bulky stools or difficulty in bowel movements
• Small, fleshy growths in the nose called nasal polyps

New research shows that the severity of CF symptoms is partly based on the types of CF gene mutations (defects) a person with the disease has. There are more than 1,000 different mutations of the CF gene. 

How do people get cystic fibrosis?

Cystic fibrosis is a genetic disease. This means that people inherit it from their parents through genes (or DNA), which also determine a lot of other characteristics including height, hair color and eye color. Genes, found in the nucleus of all the body's cells, control cell function by serving as the blueprint for the production of proteins.

To have cystic fibrosis, a person must inherit two copies of the defective CF gene—one copy from each parent. If both parents are carriers of the CF gene (i.e., they each have one copy of the defective gene, but do not have the disease themselves), their child will have a 25% chance of inheriting both defective copies and having cystic fibrosis, a 50% chance of inheriting one defective copy and being a carrier, and a 25% chance of not having CF or carrying the gene.

Statistics

• Approximately 30,000 children and adults in the United States have cystic fibrosis (70,000 worldwide). 
• About one in every 31 Americans—are carriers of the defective CF gene, but do not have the disease. 
• About 1,000 new cases of cystic fibrosis are diagnosed each year.
• More than 70% of patients are diagnosed by age two.
• More than 45% of the CF patient population is age 18 or older.
• The predicted median age of survival for a person with CF is in the late 30s.

 

Leah has two of the delta F508 mutation, the most common gene mutation for CF.

Currently, there is no cure for Cystic Fibrosis.

However, specialized medical care, aggressive drug treatments and therapies, along with proper CF nutrition, can lengthen and improve the quality of life for those with CF.

In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond. 

For more information, go to www.cff.org

The above information was taken from the Cystic Fibrosis Foundation website.